Transcervical sampling as a means of detection of fetal cells during the first trimester of pregnancy

Intérêt du génotypage du sexe fœtal dans le sang maternel dans les indications de diagnostic génétique préimplantatoire de sexe

“…Des méthodes non invasives de diagnostic prénatal pour éviter les prélèvements de villosités choriales, de liquide amniotique et de sang foetal sont en cours de développement [8][9][10]17]. L'isolement des cellules foetales à partir du sang périphérique maternel est encore du domaine de la recherche et ne peut pas être utilisé actuellement comme un test diagnostique fiable.…”

“…L'examen échographique ne permet la détermination du sexe foetal de façon fiable qu'à partir du second trimestre de la grossesse [6,7]. La récupération de cellules transcervicales [8] ou l'isolement de cellules foetales à partir du sang maternel [9] ont été rapportés, mais la sensibilité, la spécificité, les taux d'échec et le coût de ces méthodes ne permettent pas une utilisation en routine. Une approche potentielle non invasive est l'utilisation de l'ADN foetal circulant dans le plasma ou sérum maternel.…”

Evaluation of an Improved Non- invasive Fetal Sex Determination in Haemophilia A Patients

“…Due to the uncertain results of ultrasound before 13 weeks of gestation, assessment of fetal sex by this technique is usually done in the second trimester of pregnancy. Recovery of transcervical cells [22] and isolation of fetal cells from maternal blood [23] have also has been reported for the detection of fetal gender, but problems due to lack of sensitivity or specificity; frequent method failure rates and high cost make them unsuited to routine application. The detection of cell-ffDNA in maternal blood in 1997 has opened up new possibilities for noninvasive prenatal diagnosis and created an important field of study in prenatal genetic diagnosis, including fetal sex determination for couples at risk of X-linked diseases such as Haemophilia, single-gene disorders of paternal origin, and fetal RhD status in RhD -negative women.…”

Non-invasive prenatal diagnosis

“…This difference depends mainly on the method used to retrieve the cells (whether this is transcervical irrigation or cervical mucus aspiration) and operator variability. 3 A second problem is that this technique is still minimally invasive. Nevertheless, the women who have undergone this procedure have not found it especially uncomfortable and they have reported that it is comparable to having a cervical smear.…”